Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 14 | 96486941 | missense variant | T/C;G | snv | 1.5E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 3 | 16598568 | missense variant | T/A;C | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.040 | 3 | 16598169 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 9 | 25677217 | 3 prime UTR variant | T/C | snv | 0.44 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 10 | 75232686 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 0.160 | X | 67685960 | missense variant | C/T | snv | 5.5E-06 | 9.5E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.040 | 13 | 42906069 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 11 | 36573327 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | X | 133026484 | missense variant | C/T | snv | 4.5E-03 | 3.2E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 20 | 32791692 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
3 | 0.925 | 0.120 | 2 | 49154446 | 5 prime UTR variant | C/T | snv | 0.32 | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.160 | X | 67643283 | missense variant | G/A;T | snv | 1.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 2 | 197756444 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 1.000 | 0.080 | 20 | 145670 | frameshift variant | CC/-;C;CCC | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.040 | 22 | 50776482 | intron variant | G/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.160 | 10 | 102837961 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 14 | 20373548 | missense variant | C/T | snv | 0.26 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
11 | 0.776 | 0.240 | 8 | 18400484 | synonymous variant | C/T | snv | 0.36 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
14 | 0.742 | 0.320 | 8 | 18400860 | missense variant | G/A | snv | 5.8E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |